Evaluation of depression risk in LGI1 mutation carriers.

Evaluation of depression risk in LGI1 mutation carriers.
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DOI:
10.1111/j.1528-1167.2010.02677.x
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发表时间:
2010-09
期刊:
影响因子:
5.6
通讯作者:
Ottman R
Ottman R
中科院分区:
医学1区
文献类型:
--
作者:
Heiman GA;Kamberakis K;Gill R;Kalachikov S;Pedley TA;Hauser WA;Ottman R

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抑郁症是癫痫最常见的合并症。这种合并症的原因尚不清楚,可能涉及癫痫的心理社会后果、治疗副作用、癫痫表现或常见的神经生物学机制。一个特别有趣的假设是癫痫和抑郁症具有共同的遗传易感性。我们通过研究患有一种已确定的癫痫遗传形式的家庭的抑郁症状来检验这一假设:常染色体显性部分性癫痫,具有由富含亮氨酸的神经胶质瘤失活 1 基因 (LGI1) 突变引起的听觉特征。对来自 11 个 LGI1 突变家族的 94 名个体进行了标准化抑郁症筛查,其中包括 38 名癫痫突变携带者 (AC)、11 名临床未受影响的突变携带者 (UC) 和 45 名非携带者 (NC)。 AC 中目前的抑郁症状评分显着高于 NC,这种关联在排除可能由抗癫痫药物使用引起的抑郁症状后仍然存在。然而,UC 和 NC 之间的分数没有差异。虽然临床上患有癫痫的 LGI1 突变携带者抑郁症状增加,但没有癫痫的突变携带者却没有。这些发现表明,这些家庭受影响个体抑郁症状的增加与癫痫或其治疗有关,而不是与 LGI1 突变本身有关。
Depression is the most common comorbid condition in epilepsy. The cause of this comorbidity is unknown, and could involve psychosocial consequences of epilepsy, treatment side-effects, seizure manifestations, or common neurobiologic mechanisms. One hypothesis of particular interest is a shared genetic susceptibility to epilepsy and depression. We tested this hypothesis by studying depressive symptoms in families with an identified genetic form of epilepsy: autosomal dominant partial epilepsy with auditory features caused by mutations in the leucine-rich, glioma inactivated 1 gene (LGI1). A standardized depression screen was administered to 94 individuals from 11 families with mutations in LGI1, including 38 mutation carriers with epilepsy (AC), 11 clinically unaffected mutation carriers (UC), and 45 non-carriers (NC). Current depressive symptom scores were significantly higher in AC than in NC, an association that remained after excluding depressive symptoms that appeared likely to be caused by antiepileptic medication use. However, scores did not differ between UC and NC. Although LGI1 mutation carriers who were clinically affected with epilepsy had increased depressive symptoms, mutation carriers without epilepsy did not. These findings suggest that the increase in depressive symptoms in affected individuals from these families is related to epilepsy or its treatment rather than to LGI1 mutations per se.
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